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    HELT helt bHLH transcription factor [ Homo sapiens (human) ]

    Gene ID: 391723, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HELTprovided by HGNC
    Official Full Name
    helt bHLH transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:33783
    See related
    Ensembl:ENSG00000187821 MIM:617546; AllianceGenome:HGNC:33783
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Mgn; HESL; HCM1228; bHLHb44
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anterior/posterior pattern specification; regulation of neurogenesis; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; regulation of transcription by RNA polymerase II; and suckling behavior. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See HELT in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185018490..185020953)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188361903..188364366)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (185939644..185942107)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4878 Neighboring gene microRNA 4455 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:185878684-185878847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185882462-185882962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185882963-185883463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185886653-185887153 Neighboring gene Sharpr-MPRA regulatory region 11336 Neighboring gene long intergenic non-protein coding RNA 2437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185938894-185939474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185939475-185940053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185940054-185940633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185941348-185942275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185942276-185943202 Neighboring gene long intergenic non-protein coding RNA 2436 Neighboring gene uncharacterized LOC105377588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186030634-186031272 Neighboring gene Sharpr-MPRA regulatory region 4736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186049861-186050404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15847 Neighboring gene solute carrier family 25 member 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of human HESL, rat Hesl and rainbow trout hesl genes in silico. Katoh M, et al. Int J Mol Med, 2004 Oct. PMID 15375612
    2. Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system. Nakatani T, et al. J Biol Chem, 2004 Apr 16. PMID 14764602
    3. Molecular characterization, structure and developmental expression of Megane bHLH factor. Guimera J, et al. Gene, 2006 Aug 1. PMID 16644143
    4. Identification of a novel basic helix-loop-helix gene, Heslike, and its role in GABAergic neurogenesis. Miyoshi G, et al. J Neurosci, 2004 Apr 7. PMID 15071116, Free PMC Article
    5. Helt determines GABAergic over glutamatergic neuronal fate by repressing Ngn genes in the developing mesencephalon. Nakatani T, et al. Development, 2007 Aug. PMID 17611227

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Activation of DPF3a upon hypertrophic stimuli in cardiac hypertrophy switches cardiac fetal gene expression from being silenced by HEY to being activated by BRG1.
      Title: Phosphorylation of the chromatin remodeling factor DPF3a induces cardiac hypertrophy through releasing HEY repressors from DNA.
    2. identified and characterized human HES-like (HESL), rat hesl, and rainbow trout hesl genes by using bioinformatics
      Title: Identification and characterization of human HESL, rat Hesl and rainbow trout hesl genes in silico.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in GABAergic neuron differentiation in basal ganglia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anterior/posterior pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in central nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in suckling behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    hairy and enhancer of split-related protein HELT
    Names
    HES/HEY-like transcription factor
    Hes-like transcription factor
    Hey-like transcription factor
    Hey-like transcriptional repressor
    Megane bHLH factor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001300781.2 → NP_001287710.1  hairy and enhancer of split-related protein HELT isoform 1

      See identical proteins and their annotated locations for NP_001287710.1

      Status: VALIDATED

      Source sequence(s)
      AC093824
      Consensus CDS
      CCDS75214.1
      UniProtKB/Swiss-Prot
      A6NFD8, B2RTS5, B7ZMI7, B7ZMI8
      Related
      ENSP00000426033.1, ENST00000515777.6
      Conserved Domains (3) summary
      PRK14951
      Location:133 → 207
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional
      cd11408
      Location:14 → 69
      bHLH-O_HELT; basic helix-loop-helix-orange (bHLH-O) domain found in hairy and enhancer of split-related protein HELT and similar proteins
      pfam07527
      Location:87 → 127
      Hairy_orange; Hairy Orange

    2. NM_001300782.2 → NP_001287711.1  hairy and enhancer of split-related protein HELT isoform 2

      See identical proteins and their annotated locations for NP_001287711.1

      Status: VALIDATED

      Source sequence(s)
      AC093824
      Consensus CDS
      CCDS75215.1
      UniProtKB/Swiss-Prot
      A6NFD8
      Related
      ENSP00000422140.1, ENST00000505610.5
      Conserved Domains (3) summary
      PRK14951
      Location:132 → 206
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional
      cd11408
      Location:14 → 69
      bHLH-O_HELT; basic helix-loop-helix-orange (bHLH-O) domain found in hairy and enhancer of split-related protein HELT and similar proteins
      pfam07527
      Location:86 → 126
      Hairy_orange; Hairy Orange

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      185018490..185020953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008186.2 → XP_016863675.2  hairy and enhancer of split-related protein HELT isoform X1

      Related
      ENSP00000343464.4, ENST00000338875.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      188361903..188364366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349977.1 → XP_054205952.1  hairy and enhancer of split-related protein HELT isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001029887.1: Suppressed sequence

      Description
      NM_001029887.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NFD8.2 GenPept UniProtKB/Swiss-Prot:A6NFD8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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